| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891798A>C | CA409805570 | APP | n.2102T>G n.532T>G n.801T>G c.2135T>G (p.Ile712Arg) c.1910T>G (p.Ile637Arg) c.1742T>G (p.Ile581Arg) c.2078T>G (p.Ile693Arg) c.2081T>G (p.Ile694Arg) c.1805T>G (p.Ile602Arg) c.1967T>G (p.Ile656Arg) c.2063T>G (p.Ile688Arg) n.482T>G c.2024T>G (p.Ile675Arg) c.1856T>G (p.Ile619Arg) | |
| 21 | g.25891798A>G | CA409805571 | APP | n.2102T>C n.532T>C n.801T>C c.2135T>C (p.Ile712Thr) c.1910T>C (p.Ile637Thr) c.1742T>C (p.Ile581Thr) c.2078T>C (p.Ile693Thr) c.2081T>C (p.Ile694Thr) c.1805T>C (p.Ile602Thr) c.1967T>C (p.Ile656Thr) c.2063T>C (p.Ile688Thr) n.482T>C c.2024T>C (p.Ile675Thr) c.1856T>C (p.Ile619Thr) | |
| 21 | g.25891798A>T | CA409805572 | APP | n.2102T>A n.532T>A n.801T>A c.2135T>A (p.Ile712Lys) c.1910T>A (p.Ile637Lys) c.1742T>A (p.Ile581Lys) c.2078T>A (p.Ile693Lys) c.2081T>A (p.Ile694Lys) c.1805T>A (p.Ile602Lys) c.1967T>A (p.Ile656Lys) c.2063T>A (p.Ile688Lys) n.482T>A c.2024T>A (p.Ile675Lys) c.1856T>A (p.Ile619Lys) | |
| 21 | g.25891799T>A | CA409805573 | APP | n.2101A>T n.531A>T n.800A>T c.2134A>T (p.Ile712Leu) c.1909A>T (p.Ile637Leu) c.1741A>T (p.Ile581Leu) c.2077A>T (p.Ile693Leu) c.2080A>T (p.Ile694Leu) c.1804A>T (p.Ile602Leu) c.1966A>T (p.Ile656Leu) c.2062A>T (p.Ile688Leu) n.481A>T c.2023A>T (p.Ile675Leu) c.1855A>T (p.Ile619Leu) | |
| 21 | g.25891799T>C | CA409805574 | APP | n.2101A>G n.531A>G n.800A>G c.2134A>G (p.Ile712Val) c.1909A>G (p.Ile637Val) c.1741A>G (p.Ile581Val) c.2077A>G (p.Ile693Val) c.2080A>G (p.Ile694Val) c.1804A>G (p.Ile602Val) c.1966A>G (p.Ile656Val) c.2062A>G (p.Ile688Val) n.481A>G c.2023A>G (p.Ile675Val) c.1855A>G (p.Ile619Val) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.25891799T>G | CA409805575 | APP | n.2101A>C n.531A>C n.800A>C c.2134A>C (p.Ile712Leu) c.1909A>C (p.Ile637Leu) c.1741A>C (p.Ile581Leu) c.2077A>C (p.Ile693Leu) c.2080A>C (p.Ile694Leu) c.1804A>C (p.Ile602Leu) c.1966A>C (p.Ile656Leu) c.2062A>C (p.Ile688Leu) n.481A>C c.2023A>C (p.Ile675Leu) c.1855A>C (p.Ile619Leu) | |
| 21 | g.25891799T= | CA2383551623 | APP | n.2101A= n.531A= n.800A= c.2134A= (p.Ile712=) c.1909A= (p.Ile637=) c.1741A= (p.Ile581=) c.2077A= (p.Ile693=) c.2080A= (p.Ile694=) c.1804A= (p.Ile602=) c.1966A= (p.Ile656=) c.2062A= (p.Ile688=) n.481A= c.2023A= (p.Ile675=) c.1855A= (p.Ile619=) | |
| 21 | g.25891800G>A | CA511686006 | APP | n.2100C>T n.530C>T n.799C>T c.2133C>T (p.Val711=) c.1908C>T (p.Val636=) c.1740C>T (p.Val580=) c.2076C>T (p.Val692=) c.2079C>T (p.Val693=) c.1803C>T (p.Val601=) c.1965C>T (p.Val655=) c.2061C>T (p.Val687=) n.480C>T c.2022C>T (p.Val674=) c.1854C>T (p.Val618=) | |
| 21 | g.25891800G>C | CA511686007 | APP | n.2100C>G n.530C>G n.799C>G c.2133C>G (p.Val711=) c.1908C>G (p.Val636=) c.1740C>G (p.Val580=) c.2076C>G (p.Val692=) c.2079C>G (p.Val693=) c.1803C>G (p.Val601=) c.1965C>G (p.Val655=) c.2061C>G (p.Val687=) n.480C>G c.2022C>G (p.Val674=) c.1854C>G (p.Val618=) | |
| 21 | g.25891800G= | CA2383551624 | APP | n.2100C= n.530C= n.799C= c.2133C= (p.Val711=) c.1908C= (p.Val636=) c.1740C= (p.Val580=) c.2076C= (p.Val692=) c.2079C= (p.Val693=) c.1803C= (p.Val601=) c.1965C= (p.Val655=) c.2061C= (p.Val687=) n.480C= c.2022C= (p.Val674=) c.1854C= (p.Val618=) | |
| 21 | g.25891800G>T | CA9987052 | APP | n.2100C>A n.530C>A n.799C>A c.2133C>A (p.Val711=) c.1908C>A (p.Val636=) c.1740C>A (p.Val580=) c.2076C>A (p.Val692=) c.2079C>A (p.Val693=) c.1803C>A (p.Val601=) c.1965C>A (p.Val655=) c.2061C>A (p.Val687=) n.480C>A c.2022C>A (p.Val674=) c.1854C>A (p.Val618=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891801A>C | CA409805576 | APP | n.2099T>G n.529T>G n.798T>G c.2132T>G (p.Val711Gly) c.1907T>G (p.Val636Gly) c.1739T>G (p.Val580Gly) c.2075T>G (p.Val692Gly) c.2078T>G (p.Val693Gly) c.1802T>G (p.Val601Gly) c.1964T>G (p.Val655Gly) c.2060T>G (p.Val687Gly) n.479T>G c.2021T>G (p.Val674Gly) c.1853T>G (p.Val618Gly) | |
| 21 | g.25891801A>G | CA409805577 | APP | n.2099T>C n.529T>C n.798T>C c.2132T>C (p.Val711Ala) c.1907T>C (p.Val636Ala) c.1739T>C (p.Val580Ala) c.2075T>C (p.Val692Ala) c.2078T>C (p.Val693Ala) c.1802T>C (p.Val601Ala) c.1964T>C (p.Val655Ala) c.2060T>C (p.Val687Ala) n.479T>C c.2021T>C (p.Val674Ala) c.1853T>C (p.Val618Ala) | |
| 21 | g.25891801A>T | CA409805578 | APP | n.2099T>A n.529T>A n.798T>A c.2132T>A (p.Val711Asp) c.1907T>A (p.Val636Asp) c.1739T>A (p.Val580Asp) c.2075T>A (p.Val692Asp) c.2078T>A (p.Val693Asp) c.1802T>A (p.Val601Asp) c.1964T>A (p.Val655Asp) c.2060T>A (p.Val687Asp) n.479T>A c.2021T>A (p.Val674Asp) c.1853T>A (p.Val618Asp) | |
| 21 | g.25891804_25891806del | CA2654122451 | APP | n.2097_2099del n.527_529del n.796_798del c.2130_2132del (p.Val711del) c.1905_1907del (p.Val636del) c.1737_1739del (p.Val580del) c.2073_2075del (p.Val692del) c.2076_2078del (p.Val693del) c.1800_1802del (p.Val601del) c.1962_1964del (p.Val655del) c.2058_2060del (p.Val687del) n.477_479del c.2019_2021del (p.Val674del) c.1851_1853del (p.Val618del) | gnomAD v4 |
| 21 | g.25891802C>A | CA409805580 | APP | n.2098G>T n.528G>T n.797G>T c.2131G>T (p.Val711Phe) c.1906G>T (p.Val636Phe) c.1738G>T (p.Val580Phe) c.2074G>T (p.Val692Phe) c.2077G>T (p.Val693Phe) c.1801G>T (p.Val601Phe) c.1963G>T (p.Val655Phe) c.2059G>T (p.Val687Phe) n.478G>T c.2020G>T (p.Val674Phe) c.1852G>T (p.Val618Phe) | |
| 21 | g.25891802C>G | CA409805581 | APP | n.2098G>C n.528G>C n.797G>C c.2131G>C (p.Val711Leu) c.1906G>C (p.Val636Leu) c.1738G>C (p.Val580Leu) c.2074G>C (p.Val692Leu) c.2077G>C (p.Val693Leu) c.1801G>C (p.Val601Leu) c.1963G>C (p.Val655Leu) c.2059G>C (p.Val687Leu) n.478G>C c.2020G>C (p.Val674Leu) c.1852G>C (p.Val618Leu) | |
| 21 | g.25891802C>T | CA409805579 | APP | n.2098G>A n.528G>A n.797G>A c.2131G>A (p.Val711Ile) c.1906G>A (p.Val636Ile) c.1738G>A (p.Val580Ile) c.2074G>A (p.Val692Ile) c.2077G>A (p.Val693Ile) c.1801G>A (p.Val601Ile) c.1963G>A (p.Val655Ile) c.2059G>A (p.Val687Ile) n.478G>A c.2020G>A (p.Val674Ile) c.1852G>A (p.Val618Ile) | gnomAD v4 |
| 21 | g.25891803A= | CA2383551625 | APP | n.2097T= n.527T= n.796T= c.2130T= (p.Val710=) c.1905T= (p.Val635=) c.1737T= (p.Val579=) c.2073T= (p.Val691=) c.2076T= (p.Val692=) c.1800T= (p.Val600=) c.1962T= (p.Val654=) c.2058T= (p.Val686=) n.477T= c.2019T= (p.Val673=) c.1851T= (p.Val617=) | |
| 21 | g.25891803A>C | CA511686009 | APP | n.2097T>G n.527T>G n.796T>G c.2130T>G (p.Val710=) c.1905T>G (p.Val635=) c.1737T>G (p.Val579=) c.2073T>G (p.Val691=) c.2076T>G (p.Val692=) c.1800T>G (p.Val600=) c.1962T>G (p.Val654=) c.2058T>G (p.Val686=) n.477T>G c.2019T>G (p.Val673=) c.1851T>G (p.Val617=) | |
| 21 | g.25891803A>G | CA511686010 | APP | n.2097T>C n.527T>C n.796T>C c.2130T>C (p.Val710=) c.1905T>C (p.Val635=) c.1737T>C (p.Val579=) c.2073T>C (p.Val691=) c.2076T>C (p.Val692=) c.1800T>C (p.Val600=) c.1962T>C (p.Val654=) c.2058T>C (p.Val686=) n.477T>C c.2019T>C (p.Val673=) c.1851T>C (p.Val617=) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.25891803A>T | CA511686008 | APP | n.2097T>A n.527T>A n.796T>A c.2130T>A (p.Val710=) c.1905T>A (p.Val635=) c.1737T>A (p.Val579=) c.2073T>A (p.Val691=) c.2076T>A (p.Val692=) c.1800T>A (p.Val600=) c.1962T>A (p.Val654=) c.2058T>A (p.Val686=) n.477T>A c.2019T>A (p.Val673=) c.1851T>A (p.Val617=) | |
| 21 | g.25891804A>C | CA409805582 | APP | n.2096T>G n.526T>G n.795T>G c.2129T>G (p.Val710Gly) c.1904T>G (p.Val635Gly) c.1736T>G (p.Val579Gly) c.2072T>G (p.Val691Gly) c.2075T>G (p.Val692Gly) c.1799T>G (p.Val600Gly) c.1961T>G (p.Val654Gly) c.2057T>G (p.Val686Gly) n.476T>G c.2018T>G (p.Val673Gly) c.1850T>G (p.Val617Gly) | gnomAD v4 |
| 21 | g.25891804A>G | CA409805583 | APP | n.2096T>C n.526T>C n.795T>C c.2129T>C (p.Val710Ala) c.1904T>C (p.Val635Ala) c.1736T>C (p.Val579Ala) c.2072T>C (p.Val691Ala) c.2075T>C (p.Val692Ala) c.1799T>C (p.Val600Ala) c.1961T>C (p.Val654Ala) c.2057T>C (p.Val686Ala) n.476T>C c.2018T>C (p.Val673Ala) c.1850T>C (p.Val617Ala) | |
| 21 | g.25891804A>T | CA409805584 | APP | n.2096T>A n.526T>A n.795T>A c.2129T>A (p.Val710Asp) c.1904T>A (p.Val635Asp) c.1736T>A (p.Val579Asp) c.2072T>A (p.Val691Asp) c.2075T>A (p.Val692Asp) c.1799T>A (p.Val600Asp) c.1961T>A (p.Val654Asp) c.2057T>A (p.Val686Asp) n.476T>A c.2018T>A (p.Val673Asp) c.1850T>A (p.Val617Asp) | |
| 21 | g.25891805C>A | CA409805585 | APP | n.2095G>T n.525G>T n.794G>T c.2128G>T (p.Val710Phe) c.1903G>T (p.Val635Phe) c.1735G>T (p.Val579Phe) c.2071G>T (p.Val691Phe) c.2074G>T (p.Val692Phe) c.1798G>T (p.Val600Phe) c.1960G>T (p.Val654Phe) c.2056G>T (p.Val686Phe) n.475G>T c.2017G>T (p.Val673Phe) c.1849G>T (p.Val617Phe) | |
| 21 | g.25891805C= | CA2383551626 | APP | n.2095G= n.525G= n.794G= c.2128G= (p.Val710=) c.1903G= (p.Val635=) c.1735G= (p.Val579=) c.2071G= (p.Val691=) c.2074G= (p.Val692=) c.1798G= (p.Val600=) c.1960G= (p.Val654=) c.2056G= (p.Val686=) n.475G= c.2017G= (p.Val673=) c.1849G= (p.Val617=) | |
| 21 | g.25891805C>G | CA409805586 | APP | n.2095G>C n.525G>C n.794G>C c.2128G>C (p.Val710Leu) c.1903G>C (p.Val635Leu) c.1735G>C (p.Val579Leu) c.2071G>C (p.Val691Leu) c.2074G>C (p.Val692Leu) c.1798G>C (p.Val600Leu) c.1960G>C (p.Val654Leu) c.2056G>C (p.Val686Leu) n.475G>C c.2017G>C (p.Val673Leu) c.1849G>C (p.Val617Leu) | |
| 21 | g.25891805C>T | CA9987053 | APP | n.2095G>A n.525G>A n.794G>A c.2128G>A (p.Val710Ile) c.1903G>A (p.Val635Ile) c.1735G>A (p.Val579Ile) c.2071G>A (p.Val691Ile) c.2074G>A (p.Val692Ile) c.1798G>A (p.Val600Ile) c.1960G>A (p.Val654Ile) c.2056G>A (p.Val686Ile) n.475G>A c.2017G>A (p.Val673Ile) c.1849G>A (p.Val617Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891806A>C | CA511686013 | APP | n.2094T>G n.524T>G n.793T>G c.2127T>G (p.Gly709=) c.1902T>G (p.Gly634=) c.1734T>G (p.Gly578=) c.2070T>G (p.Gly690=) c.2073T>G (p.Gly691=) c.1797T>G (p.Gly599=) c.1959T>G (p.Gly653=) c.2055T>G (p.Gly685=) n.474T>G c.2016T>G (p.Gly672=) c.1848T>G (p.Gly616=) | |
| 21 | g.25891806A>G | CA511686011 | APP | n.2094T>C n.524T>C n.793T>C c.2127T>C (p.Gly709=) c.1902T>C (p.Gly634=) c.1734T>C (p.Gly578=) c.2070T>C (p.Gly690=) c.2073T>C (p.Gly691=) c.1797T>C (p.Gly599=) c.1959T>C (p.Gly653=) c.2055T>C (p.Gly685=) n.474T>C c.2016T>C (p.Gly672=) c.1848T>C (p.Gly616=) | gnomAD v4 COSMIC |
| 21 | g.25891806A>T | CA511686012 | APP | n.2094T>A n.524T>A n.793T>A c.2127T>A (p.Gly709=) c.1902T>A (p.Gly634=) c.1734T>A (p.Gly578=) c.2070T>A (p.Gly690=) c.2073T>A (p.Gly691=) c.1797T>A (p.Gly599=) c.1959T>A (p.Gly653=) c.2055T>A (p.Gly685=) n.474T>A c.2016T>A (p.Gly672=) c.1848T>A (p.Gly616=) | |
| 21 | g.25891807C>A | CA9987054 | APP | n.2093G>T n.523G>T n.792G>T c.2126G>T (p.Gly709Val) c.1901G>T (p.Gly634Val) c.1733G>T (p.Gly578Val) c.2069G>T (p.Gly690Val) c.2072G>T (p.Gly691Val) c.1796G>T (p.Gly599Val) c.1958G>T (p.Gly653Val) c.2054G>T (p.Gly685Val) n.473G>T c.2015G>T (p.Gly672Val) c.1847G>T (p.Gly616Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891807C= | CA2383551627 | APP | n.2093G= n.523G= n.792G= c.2126G= (p.Gly709=) c.1901G= (p.Gly634=) c.1733G= (p.Gly578=) c.2069G= (p.Gly690=) c.2072G= (p.Gly691=) c.1796G= (p.Gly599=) c.1958G= (p.Gly653=) c.2054G= (p.Gly685=) n.473G= c.2015G= (p.Gly672=) c.1847G= (p.Gly616=) | |
| 21 | g.25891807C>G | CA409805588 | APP | n.2093G>C n.523G>C n.792G>C c.2126G>C (p.Gly709Ala) c.1901G>C (p.Gly634Ala) c.1733G>C (p.Gly578Ala) c.2069G>C (p.Gly690Ala) c.2072G>C (p.Gly691Ala) c.1796G>C (p.Gly599Ala) c.1958G>C (p.Gly653Ala) c.2054G>C (p.Gly685Ala) n.473G>C c.2015G>C (p.Gly672Ala) c.1847G>C (p.Gly616Ala) | COSMIC |
| 21 | g.25891807C>T | CA409805587 | APP | n.2093G>A n.523G>A n.792G>A c.2126G>A (p.Gly709Asp) c.1901G>A (p.Gly634Asp) c.1733G>A (p.Gly578Asp) c.2069G>A (p.Gly690Asp) c.2072G>A (p.Gly691Asp) c.1796G>A (p.Gly599Asp) c.1958G>A (p.Gly653Asp) c.2054G>A (p.Gly685Asp) n.473G>A c.2015G>A (p.Gly672Asp) c.1847G>A (p.Gly616Asp) | |
| 21 | g.25891808C>A | CA9987056 | APP | n.2092G>T n.522G>T n.791G>T c.2125G>T (p.Gly709Cys) c.1900G>T (p.Gly634Cys) c.1732G>T (p.Gly578Cys) c.2068G>T (p.Gly690Cys) c.2071G>T (p.Gly691Cys) c.1795G>T (p.Gly599Cys) c.1957G>T (p.Gly653Cys) c.2053G>T (p.Gly685Cys) n.472G>T c.2014G>T (p.Gly672Cys) c.1846G>T (p.Gly616Cys) | dbSNP ExAC |
| 21 | g.25891808C= | CA2383551628 | APP | n.2092G= n.522G= n.791G= c.2125G= (p.Gly709=) c.1900G= (p.Gly634=) c.1732G= (p.Gly578=) c.2068G= (p.Gly690=) c.2071G= (p.Gly691=) c.1795G= (p.Gly599=) c.1957G= (p.Gly653=) c.2053G= (p.Gly685=) n.472G= c.2014G= (p.Gly672=) c.1846G= (p.Gly616=) | |
| 21 | g.25891808C>G | CA409805589 | APP | n.2092G>C n.522G>C n.791G>C c.2125G>C (p.Gly709Arg) c.1900G>C (p.Gly634Arg) c.1732G>C (p.Gly578Arg) c.2068G>C (p.Gly690Arg) c.2071G>C (p.Gly691Arg) c.1795G>C (p.Gly599Arg) c.1957G>C (p.Gly653Arg) c.2053G>C (p.Gly685Arg) n.472G>C c.2014G>C (p.Gly672Arg) c.1846G>C (p.Gly616Arg) | |
| 21 | g.25891808C>T | CA9987055 | APP | n.2092G>A n.522G>A n.791G>A c.2125G>A (p.Gly709Ser) c.1900G>A (p.Gly634Ser) c.1732G>A (p.Gly578Ser) c.2068G>A (p.Gly690Ser) c.2071G>A (p.Gly691Ser) c.1795G>A (p.Gly599Ser) c.1957G>A (p.Gly653Ser) c.2053G>A (p.Gly685Ser) n.472G>A c.2014G>A (p.Gly672Ser) c.1846G>A (p.Gly616Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891809G>A | CA9987057 | APP | n.2091C>T n.521C>T n.790C>T c.2124C>T (p.Gly708=) c.1899C>T (p.Gly633=) c.1731C>T (p.Gly577=) c.2067C>T (p.Gly689=) c.2070C>T (p.Gly690=) c.1794C>T (p.Gly598=) c.1956C>T (p.Gly652=) c.2052C>T (p.Gly684=) n.471C>T c.2013C>T (p.Gly671=) c.1845C>T (p.Gly615=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.25891809G>C | CA511686014 | APP | n.2091C>G n.521C>G n.790C>G c.2124C>G (p.Gly708=) c.1899C>G (p.Gly633=) c.1731C>G (p.Gly577=) c.2067C>G (p.Gly689=) c.2070C>G (p.Gly690=) c.1794C>G (p.Gly598=) c.1956C>G (p.Gly652=) c.2052C>G (p.Gly684=) n.471C>G c.2013C>G (p.Gly671=) c.1845C>G (p.Gly615=) | |
| 21 | g.25891809G= | CA2383551629 | APP | n.2091C= n.521C= n.790C= c.2124C= (p.Gly708=) c.1899C= (p.Gly633=) c.1731C= (p.Gly577=) c.2067C= (p.Gly689=) c.2070C= (p.Gly690=) c.1794C= (p.Gly598=) c.1956C= (p.Gly652=) c.2052C= (p.Gly684=) n.471C= c.2013C= (p.Gly671=) c.1845C= (p.Gly615=) | |
| 21 | g.25891809G>T | CA511686015 | APP | n.2091C>A n.521C>A n.790C>A c.2124C>A (p.Gly708=) c.1899C>A (p.Gly633=) c.1731C>A (p.Gly577=) c.2067C>A (p.Gly689=) c.2070C>A (p.Gly690=) c.1794C>A (p.Gly598=) c.1956C>A (p.Gly652=) c.2052C>A (p.Gly684=) n.471C>A c.2013C>A (p.Gly671=) c.1845C>A (p.Gly615=) | |
| 21 | g.25891810C>A | CA409805590 | APP | n.2090G>T n.520G>T n.789G>T c.2123G>T (p.Gly708Val) c.1898G>T (p.Gly633Val) c.1730G>T (p.Gly577Val) c.2066G>T (p.Gly689Val) c.2069G>T (p.Gly690Val) c.1793G>T (p.Gly598Val) c.1955G>T (p.Gly652Val) c.2051G>T (p.Gly684Val) n.470G>T c.2012G>T (p.Gly671Val) c.1844G>T (p.Gly615Val) | |
| 21 | g.25891810C>G | CA409805592 | APP | n.2090G>C n.520G>C n.789G>C c.2123G>C (p.Gly708Ala) c.1898G>C (p.Gly633Ala) c.1730G>C (p.Gly577Ala) c.2066G>C (p.Gly689Ala) c.2069G>C (p.Gly690Ala) c.1793G>C (p.Gly598Ala) c.1955G>C (p.Gly652Ala) c.2051G>C (p.Gly684Ala) n.470G>C c.2012G>C (p.Gly671Ala) c.1844G>C (p.Gly615Ala) | |
| 21 | g.25891810C>T | CA409805591 | APP | n.2090G>A n.520G>A n.789G>A c.2123G>A (p.Gly708Asp) c.1898G>A (p.Gly633Asp) c.1730G>A (p.Gly577Asp) c.2066G>A (p.Gly689Asp) c.2069G>A (p.Gly690Asp) c.1793G>A (p.Gly598Asp) c.1955G>A (p.Gly652Asp) c.2051G>A (p.Gly684Asp) n.470G>A c.2012G>A (p.Gly671Asp) c.1844G>A (p.Gly615Asp) | |
| 21 | g.25891811_25891815dup | CA2589711790 | APP | n.2086_2090dup n.516_520dup n.785_789dup c.2119_2123dup (p.Gly709TrpfsTer6) c.1894_1898dup (p.Gly634TrpfsTer6) c.1726_1730dup (p.Gly578TrpfsTer6) c.2062_2066dup (p.Gly690TrpfsTer6) c.2065_2069dup (p.Gly691TrpfsTer6) c.1789_1793dup (p.Gly599TrpfsTer6) c.1951_1955dup (p.Gly653TrpfsTer6) c.2047_2051dup (p.Gly685TrpfsTer6) n.466_470dup c.2008_2012dup (p.Gly672TrpfsTer6) c.1840_1844dup (p.Gly616TrpfsTer6) | gnomAD v3 gnomAD v4 |
| 21 | g.25891811C>A | CA409805593 | APP | n.2089G>T n.519G>T n.788G>T c.2122G>T (p.Gly708Cys) c.1897G>T (p.Gly633Cys) c.1729G>T (p.Gly577Cys) c.2065G>T (p.Gly689Cys) c.2068G>T (p.Gly690Cys) c.1792G>T (p.Gly598Cys) c.1954G>T (p.Gly652Cys) c.2050G>T (p.Gly684Cys) n.469G>T c.2011G>T (p.Gly671Cys) c.1843G>T (p.Gly615Cys) | |
| 21 | g.25891811C>G | CA409805594 | APP | n.2089G>C n.519G>C n.788G>C c.2122G>C (p.Gly708Arg) c.1897G>C (p.Gly633Arg) c.1729G>C (p.Gly577Arg) c.2065G>C (p.Gly689Arg) c.2068G>C (p.Gly690Arg) c.1792G>C (p.Gly598Arg) c.1954G>C (p.Gly652Arg) c.2050G>C (p.Gly684Arg) n.469G>C c.2011G>C (p.Gly671Arg) c.1843G>C (p.Gly615Arg) |